Aliases for HSPD1 Gene
External Ids for HSPD1 Gene
Previous Symbols for HSPD1 Gene
This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
GeneCards Summary for HSPD1 Gene
HSPD1 (Heat Shock 60kDa Protein 1 (Chaperonin)) is a Protein Coding gene. Diseases associated with HSPD1 include spastic paraplegia 13 and spastic paraplegia 13, autosomal dominant. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and SIDS Susceptibility Pathways. GO annotations related to this gene include ATPase activity and single-stranded DNA binding.
UniProtKB/Swiss-Prot for HSPD1 Gene
Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix